Open AccessConcise Review: New Paradigms for Down Syndrome Research Using Induced Pluripotent Stem Cells: Tackling Complex Human Genetic Disease
Author(s) -
Briggs James A.,
Mason Elizabeth A.,
Ovchinnikov Dmitry A.,
Wells Christine A.,
Wolvetang Ernst J.
Publication year - 2013
Publication title -
stem cells translational medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.781
H-Index - 71
eISSN - 2157-6580
pISSN - 2157-6564
DOI - 10.5966/sctm.2012-0117
Subject(s) - induced pluripotent stem cell , reprogramming , biology , phenotype , computational biology , trisomy , genomics , gene , bioinformatics , genetics , embryonic stem cell , genome
This review presents general strategies that integrate genomics technologies and induced pluripotent stem cells to identify molecular networks driving different aspects of Down syndrome pathogenesis and describes experimental approaches to validate the causal requirement of candidate network defects for particular cellular phenotypes. This overall approach should be applicable to many poorly understood complex human genetic diseases, whose pathogenic mechanisms might involve the combined effects of many genes.